Varaico: Literature-Extracted Genetic Variants

Gene:ABCA4
Variant:p.W1905Splc
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ABCA4

NM_000350.3:p.W1905Splc

Associated Papers

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care.

Daich Varela M et al.

Ophthalmology, 2023

37331482 (PubMed )
Supplement: mmc1.pdf

Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease.

Yzer S et al.

Molecular Vision, 2007

Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.

Klevering BJ et al.

European Journal of Human Genetics : Ejhg, 2004

[From gene to disease: from the ABCA4 gene to Stargardt disease, cone-rod dystrophy and retinitis pigmentosa].

Cremers FP et al.

Nederlands Tijdschrift Voor Geneeskunde, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."